Canonical Allele Identifier: CA2683086616

Gene: ASL

Linked Data

• gnomAD v4: 7-66092128-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092135_66092136del , CM000669.2:g.66092135_66092136del	GRCh38
NC_000007.13:g.65557122_65557123del , CM000669.1:g.65557122_65557123del	GRCh37
NC_000007.12:g.65194557_65194558del	NCBI36
NG_009288.1:g.21347_21348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+49_1143+50del MANE Select	ENSP00000307188.9:n.1143+49_1143+50del
ENST00000362000.10:c.948+49_948+50del	ENSP00000354710.6:n.948+49_948+50del
ENST00000380839.9:c.1065+49_1065+50del	ENSP00000370219.4:n.1065+49_1065+50del
ENST00000395331.4:c.1083+49_1083+50del	ENSP00000378740.3:n.1083+49_1083+50del
ENST00000395332.8:c.1143+49_1143+50del	ENSP00000378741.3:n.1143+49_1143+50del
ENST00000488343.2:c.148-769_148-768del	ENSP00000500864.1:n.148-769_148-768del
ENST00000672498.1:c.*442+49_*442+50del	ENSP00000500227.1:n.*442+49_*442+50del
ENST00000672586.1:n.1902+49_1902+50del
ENST00000672676.1:n.2167+49_2167+50del
ENST00000673149.1:n.955+49_955+50del
ENST00000673350.1:n.3260+49_3260+50del
ENST00000673518.1:c.1065+49_1065+50del	ENSP00000499889.1:n.1065+49_1065+50del
ENST00000304874.13:c.1143+49_1143+50del	ENSP00000307188.9:n.1143+49_1143+50del
ENST00000380839.8:c.1065+49_1065+50del	ENSP00000370219.4:n.1065+49_1065+50del
ENST00000395331.3:c.1083+49_1083+50del	ENSP00000378740.3:n.1083+49_1083+50del
ENST00000395332.7:c.1143+49_1143+50del	ENSP00000378741.3:n.1143+49_1143+50del
ENST00000450043.2:c.456+49_456+50del	ENSP00000396527.2:n.456+49_456+50del
ENST00000464970.1:n.346+49_346+50del
ENST00000488343.1:n.148-769_148-768del
ENST00000493708.5:n.624+49_624+50del
NM_000048.3:c.1143+49_1143+50del	NP_000039.2:n.1143+49_1143+50del
NM_001024943.1:c.1143+49_1143+50del	NP_001020114.1:n.1143+49_1143+50del
NM_001024944.1:c.1083+49_1083+50del	NP_001020115.1:n.1083+49_1083+50del
NM_001024946.1:c.1065+49_1065+50del	NP_001020117.1:n.1065+49_1065+50del
NM_000048.4:c.1143+49_1143+50del MANE Select	NP_000039.2:n.1143+49_1143+50del
NM_001024943.2:c.1143+49_1143+50del	NP_001020114.1:n.1143+49_1143+50del
NM_001024944.2:c.1083+49_1083+50del	NP_001020115.1:n.1083+49_1083+50del
NM_001024946.2:c.1065+49_1065+50del	NP_001020117.1:n.1065+49_1065+50del